Canonical Allele Identifier: CA109869179
Gene: PALLD HGNC NCBI
DDX60L HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.168497115C>T
GRCh37 chr4:g.169418266C>T
gnomAD v3:
4:168497115 C / T
gnomAD v4:
chr4-168497115-C-T
Joint Max Group AF 0.0001689 (SAS)
Genomes Max Group AF 0.0001689 (SAS)
ClinVar RCV:
RCV001148281
ClinVar Variation:
902038
dbSNP:
538959058
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.168497115C>T , CM000666.2:g.168497115C>T GRCh38
NC_000004.11:g.169418266C>T , CM000666.1:g.169418266C>T GRCh37
NC_000004.10:g.169654841C>T NCBI36
NG_013376.1:g.5050C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505667.6:c.-162C>T (PALLD) MANE Select ENSP00000425556.1:n.-162C>T
ENST00000261509.10:c.-162C>T (PALLD) ENSP00000261509.6:n.-162C>T
ENST00000505150.5:n.289-4230G>A (DDX60L)
ENST00000505667.5:c.-162C>T (PALLD) ENSP00000425556.1:n.-162C>T
ENST00000512958.1:n.238-4230G>A (DDX60L)
NM_001166108.1:c.-162C>T (PALLD) NP_001159580.1:n.-162C>T
NM_016081.3:c.-162C>T (PALLD) NP_057165.3:n.-162C>T
XM_005262861.3:c.-162C>T (PALLD) XP_005262918.1:n.-162C>T
XM_005262861.4:c.-162C>T (PALLD) XP_005262918.1:n.-162C>T
XR_001741448.2:n.1833-4230G>A
NM_001166108.2:c.-162C>T (PALLD) MANE Select NP_001159580.1:n.-162C>T
NM_016081.4:c.-162C>T (PALLD) NP_057165.3:n.-162C>T
Search 100 bp 5'
Search 100 bp 3'